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LOC100289473 cytoskeleton associated protein 2-like pseudogene [ Homo sapiens (human) ]

Gene ID: 100289473, updated on 22-Oct-2024

Summary

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Gene symbol
LOC100289473
Gene description
cytoskeleton associated protein 2-like pseudogene
See related
Ensembl:ENSG00000286288
Gene type
pseudo
RefSeq status
PREDICTED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Low expression observed in reference dataset See more
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Genomic context

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See LOC100289473 in Genome Data Viewer
Location:
20p13
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (1773365..1779746, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (1789514..1796090, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (1754011..1760392, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124904858 Neighboring gene CKAP2L pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12594 Neighboring gene Sharpr-MPRA regulatory region 14496 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:1809920-1810830 Neighboring gene uncharacterized LOC105372501 Neighboring gene uncharacterized LOC124904857 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17460

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Signal regulatory proteins in the immune system. van Beek EM, et al. J Immunol, 2005 Dec 15. PMID 16339510
  2. A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia. Hu Z, et al. Nat Genet, 2011 Dec 25. PMID 22197933
  3. Identification and analysis of unitary pseudogenes: historic and contemporary gene losses in humans and other primates. Zhang ZD, et al. Genome Biol, 2010. PMID 20210993, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study in Chinese men identifies three risk loci for non-obstructive azoospermia.
EBI GWAS Catalog

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

General gene information

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Markers

Other Names

  • immunoglobulin C1-set domain containing pseudogene

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

RNA

  1. NR_037142.1 RNA Sequence

    Status: PREDICTED

    Source sequence(s)
    AL109809
    Related
    ENST00000458670.1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

    Range
    1773365..1779746 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    1789514..1796090 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NG_023540.1: Suppressed sequence

    Description
    NG_023540.1: This RefSeq was permanently suppressed because it is now thought that this pseudogene is transcribed.
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Chemical Information
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